Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs189864513
rs189864513
3 0.925 0.040 4 52767390 intron variant T/C snv 1.9E-03 0.700 1.000 1 2016 2016